{{Rsnum
|rsid=11694
|Gene=NPC2
|Orientation=minus
|ReferenceAllele=T
|MissenseAllele=C
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Chromosome=14
|position=74484579
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=NPC2
}}{{omim
|desc=[[Niemann-Pick disease]] , TYPE C2
|id=601015
|rsnum=11694
|variant=0006
}}{{ClinVar
|rsid=11694
|Reversed=1
|FwdREF=T
|FwdALT=C
|REF=A
|ALT=G
|RSPOS=74951282
|CHROM=14
|dbSNPBuildID=52
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=NPC2:10577
|GENE_NAME=NPC2
|GENE_ID=10577
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000014.8:g.74951282A>G
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=0
|CLNSRCID=NBK1296; 601015.0006
|CLNSIG=5
|CLNCUI=C1843366; C1843366
|CLNDBN=Niemann-Pick disease type C2
|Disease=Niemann-Pick disease type C2
|CLNACC=RCV000009003.2
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1296:C1843366:607625:646
}}{{PMID|11567215|OA=1
}} Niemann-Pick disease type C: spectrum of HE1 mutations and genotype/phenotype correlations in the NPC2 group.

{{PMID|15937921}} Niemann-Pick type C disease: subcellular location and functional characterization of NPC2 proteins with naturally occurring missense mutations.